Ontario Genetic Test Directory

This directory lists diagnostic genetic tests available in Ontario for rare and inherited diseases, including molecular genetic, constitutional cytogenetic and pharmacogenetic tests.

This directory does not include:

Please contact your local genetics laboratory to confirm availability of testing, patient eligibility or sample requirements.

See Genetics Guidance for evidence-based clinical guidance on genetic testing in Ontario, and the Ontario Genetics Clinic Directory for a list of genetics clinics in Ontario.

The information in this directory is intended for informational purposes only and may not reflect all recent updates.

Displaying Results

113 Results

GAMT deficiency

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Single Gene

Glutaric Aciduria Type 1

Category: Metabolic
Subcategory: Organic Acid Disorders
Test Type: Single Gene

HCT Full Panel (76 Genes)

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer
Test Type: Gene Panel

Hearing Loss, Non-Syndromic (GJB2 (including GJB6 del) and SLC26A4)

Category: Audiology
Subcategory: Non-Syndromic Hearing Loss
Test Type: Gene Panel

Hemochromatosis Genotype

Category: Hematology
Subcategory: Hereditary Hemochromatosis
Test Type: Targeted Variant

Hereditary Breast/ Ovarian/ Prostate Cancer

Category: Cancer
Subcategory: Hereditary Breast, Ovarian, Prostate Cancer
Test Type: Gene Panel

Hereditary Breast/ Ovarian/ Prostate/ Gastrointestinal Cancer

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer
Test Type: Gene Panel

Hereditary Breast/ Ovarian/ Prostate/ Melanoma Cancer

Category: Cancer
Subcategory: Hereditary Comprehensive Cancer
Test Type: Gene Panel

Hereditary Central Nervous System Tumour

Category: Cancer
Subcategory: Hereditary Central Nervous System (CNS) Tumours
Test Type: Gene Panel

Hereditary Endometrial Cancer

Category: Cancer
Subcategory: Hereditary Endometrial Cancer
Test Type: Gene Panel